Linked Data
ClinVar Variation Id:
30999
dbSNP Id:
rs373905859
ExAC:
17:8134745 G / A
gnomAD v2:
17-8134745-G-A
gnomAD v3:
17-8231427-G-A
gnomAD v4:
17-8231427-G-A
PubMed:
PMID:22267198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8231427G>A , CM000679.2:g.8231427G>A | GRCh38 |
| NC_000017.10:g.8134745G>A , CM000679.1:g.8134745G>A | GRCh37 |
| NC_000017.9:g.8075470G>A | NCBI36 |
| NG_032148.1:g.21669C>T | |
| NG_032148.2:g.21669C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.2518C>T | ENSP00000462607.2:p.Arg840Trp | |
| ENST00000581729.2:c.2518C>T | ENSP00000462720.2:p.Arg840Trp | |
| ENST00000581967.2:n.2970C>T | ||
| ENST00000583254.2:n.3567C>T | ||
| ENST00000699849.1:c.1621C>T | ENSP00000514647.1:p.Arg541Trp | |
| ENST00000699850.1:n.1781C>T | ||
| ENST00000699851.1:n.2540C>T | ||
| ENST00000699852.1:c.*1194C>T | ENSP00000514648.1:n.*1194C>T | |
| ENST00000699853.1:c.2518C>T | ENSP00000514649.1:p.Arg840Trp | |
| ENST00000699854.1:n.2311C>T | ||
| ENST00000699855.1:n.2970C>T | ||
| ENST00000699856.1:c.2518C>T | ENSP00000514650.1:p.Arg840Trp | |
| ENST00000699857.1:n.2526C>T | ||
| ENST00000699858.1:c.*1131C>T | ENSP00000514651.1:n.*1131C>T | |
| ENST00000699859.1:c.2389C>T | ENSP00000514652.1:p.Arg797Trp | |
| ENST00000699860.1:n.581+299C>T | ||
| ENST00000699861.1:n.2540C>T | ||
| ENST00000699862.1:n.3478C>T | ||
| ENST00000449476.7:c.2413C>T | ENSP00000396018.2:p.Arg805Trp | |
| ENST00000581671.2:n.2507C>T | ||
| ENST00000643543.1:c.*1225C>T | ENSP00000494323.1:n.*1225C>T | |
| ENST00000651323.1:c.2518C>T MANE Select | ENSP00000498499.1:p.Arg840Trp | |
| ENST00000315684.12:c.2518C>T | ENSP00000313759.8:p.Arg840Trp | |
| ENST00000449476.6:c.2413C>T | ENSP00000396018.2:p.Arg805Trp | |
| ENST00000578240.1:n.746C>T | ||
| ENST00000578441.5:n.19C>T | ||
| ENST00000578537.1:c.371+299C>T | ||
| NM_025099.5:c.2518C>T | NP_079375.3:p.Arg840Trp | |
| NR_046431.1:n.2472C>T | ||
| XM_006721577.2:c.2389C>T | XP_006721640.1:p.Arg797Trp | |
| XM_006721578.2:c.2518C>T | XP_006721641.1:p.Arg840Trp | |
| XM_006721579.2:c.2518C>T | XP_006721642.1:p.Arg840Trp | |
| XM_011524010.1:c.2413C>T | XP_011522312.1:p.Arg805Trp | |
| XM_011524011.1:c.1621C>T | XP_011522313.1:p.Arg541Trp | |
| XR_429823.2:n.2561C>T | ||
| XR_429824.2:n.2561C>T | ||
| XR_429825.1:n.2518+299C>T | ||
| NM_025099.6:c.2518C>T MANE Select | NP_079375.3:p.Arg840Trp | |
| XM_006721577.3:c.2389C>T | XP_006721640.1:p.Arg797Trp | |
| XM_006721578.3:c.2518C>T | XP_006721641.1:p.Arg840Trp | |
| XM_011524010.2:c.2413C>T | XP_011522312.1:p.Arg805Trp | |
| XM_011524011.2:c.1621C>T | XP_011522313.1:p.Arg541Trp | |
| XR_001752639.1:n.2432C>T | ||
| XR_001752640.1:n.2561C>T | ||
| XR_001752641.1:n.2561C>T | ||
| XR_001752642.1:n.2518+299C>T | ||
| XR_001752643.1:n.2991C>T | ||
| XR_002958073.1:n.2518+299C>T | ||
| XR_429823.3:n.2561C>T | ||
| XR_429824.3:n.2561C>T | ||
| NR_046431.2:n.2433C>T |